Canonical Allele Identifier: CA1486149

Gene: HNRNPU COX20

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244842248T>C , CM000663.2:g.244842248T>C	GRCh38
NC_000001.10:g.245005550T>C , CM000663.1:g.245005550T>C	GRCh37
NC_000001.9:g.243072173T>C	NCBI36
NG_042825.1:g.11943T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_198076.6:c.211T>C (COX20) MANE Select	NP_932342.1:p.Leu71=
ENST00000411948.7:c.211T>C (COX20) MANE Select	ENSP00000406327.2:p.Leu71=
NM_001312871.1:c.211T>C (COX20)	NP_001299800.1:p.Leu71=
NM_001312872.1:c.247T>C (COX20)	NP_001299801.1:p.Leu83=
NM_001312873.1:c.76T>C (COX20)	NP_001299802.1:p.Leu26=
NM_001312874.1:c.*21T>C (COX20)	NP_001299803.1:n.*21T>C
NM_198076.4:c.211T>C (COX20)	NP_932342.1:p.Leu71=
NM_198076.5:c.211T>C (COX20)	NP_932342.1:p.Leu71=
NR_132419.1:n.335T>C (COX20)
NR_132420.1:n.430T>C (COX20)
NR_132421.1:n.311T>C (COX20)
ENST00000366527.4:n.11242A>G (HNRNPU)
ENST00000366528.3:c.247T>C (COX20)	ENSP00000355486.3:p.Leu83=
ENST00000391839.6:n.155T>C (COX20)
ENST00000411948.6:c.211T>C (COX20)	ENSP00000406327.2:p.Leu71=
ENST00000464757.1:n.2366T>C (COX20)
ENST00000475997.6:c.3680A>G (HNRNPU)	ENSP00000482621.2:n.3680A>G
ENST00000498262.1:n.263T>C (COX20)
ENST00000649899.1:n.11523A>G (HNRNPU)